ROPN1

rhophilin associated tail protein 1

Basic information

Region (hg38): 3:123968521-123992178

Links

ENSG00000065371 ∙ NCBI:54763 ∙ OMIM:611757 ∙ HGNC:17692 ∙ Uniprot:Q9HAT0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ROPN1 gene.

• not_specified (37 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ROPN1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001317774.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			33	4	1	38
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	33	4	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ROPN1	protein_coding	protein_coding	ENST00000184183	5	23658

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000996	0.591	125701	0	46	125747	0.000183

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0704	116	118	0.982	0.00000680	1374
Missense in Polyphen		32	38.677	0.82737		524
Synonymous	-0.311	51	48.3	1.06	0.00000291	417
Loss of Function	0.669	7	9.19	0.762	4.71e-7	118

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000624	0.000621
Ashkenazi Jewish	0.000198	0.000198
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000123	0.000123
Middle Eastern	0.00	0.00
South Asian	0.000338	0.000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Important for male fertility. With ROPN1L, involved in fibrous sheath integrity and sperm motility, plays a role in PKA- dependent signaling processes required for spermatozoa capacitation. {ECO:0000250|UniProtKB:Q9ESG2}.
• Pathway: Signal Transduction;RHO GTPases Activate Rhotekin and Rhophilins;RHO GTPase Effectors;Signaling by Rho GTPases (Consensus)

Recessive Scores

• pRec: 0.0794

Intolerance Scores

• loftool: 0.703
• rvis_EVS: 0.13
• rvis_percentile_EVS: 63

Haploinsufficiency Scores

• pHI: 0.373
• hipred: N
• hipred_score: 0.139
• ghis: 0.422

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.379

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ropn1
• Phenotype: reproductive system phenotype

Gene ontology

• Biological process: regulation of protein phosphorylation;flagellated sperm motility;cilium organization;sperm capacitation;protein localization to cilium
• Cellular component: nucleus;cytoplasm;motile cilium
• Molecular function: protein binding;identical protein binding